NCT01793168

Brief Summary

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

Trial Health

80
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
20,000

participants targeted

Target at P75+ for all trials

Timeline
908mo left

Started Jul 2010

Longer than P75 for all trials

Geographic Reach
2 countries

2 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress18%
Jul 2010Dec 2100

Study Start

First participant enrolled

July 1, 2010

Completed
2.6 years until next milestone

First Submitted

Initial submission to the registry

February 13, 2013

Completed
2 days until next milestone

First Posted

Study publicly available on registry

February 15, 2013

Completed
87.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2100

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2100

Last Updated

May 29, 2025

Status Verified

May 1, 2025

Enrollment Period

90.5 years

First QC Date

February 13, 2013

Last Update Submit

May 22, 2025

Conditions

Rare DisordersUndiagnosed DisordersDisorders of Unknown PrevalenceCornelia De Lange SyndromePrenatal Benign HypophosphatasiaPerinatal Lethal HypophosphatasiaOdontohypophosphatasiaAdult HypophosphatasiaChildhood-onset HypophosphatasiaInfantile HypophosphatasiaHypophosphatasiaKabuki SyndromeBohring-Opitz SyndromeNarcolepsy Without CataplexyNarcolepsy-cataplexyHypersomnolence DisorderIdiopathic Hypersomnia Without Long Sleep TimeIdiopathic Hypersomnia With Long Sleep TimeIdiopathic HypersomniaKleine-Levin SyndromeKawasaki DiseaseLeiomyosarcomaLeiomyosarcoma of the Corpus UteriLeiomyosarcoma of the Cervix UteriLeiomyosarcoma of Small IntestineAcquired Myasthenia GravisAddison DiseaseHyperacusis (Hyperacousis)Juvenile Myasthenia GravisTransient Neonatal Myasthenia GravisWilliams SyndromeLyme DiseaseMyasthenia GravisMarinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome)Isolated Klippel-Feil SyndromeFrasier SyndromeDenys-Drash SyndromeBeckwith-Wiedemann SyndromeEmanuel SyndromeIsolated AniridiaAxenfeld-Rieger SyndromeAniridia-intellectual Disability SyndromeAniridia - Renal Agenesis - Psychomotor RetardationAniridia - Ptosis - Intellectual Disability - Familial ObesityAniridia - Cerebellar Ataxia - Intellectual DisabilityAniridia - Absent PatellaAniridiaPeters Anomaly - CataractPeters AnomalyPotocki-Shaffer SyndromeSilver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11Silver-Russell Syndrome Due to Imprinting Defect of 11p15Silver-Russell Syndrome Due to 11p15 MicroduplicationSyndromic AniridiaWAGR SyndromeWolf-Hirschhorn Syndrome4p16.3 Microduplication Syndrome4p Deletion Syndrome, Non-Wolf-Hirschhorn SyndromeAutosomal Recessive Stickler SyndromeStickler Syndrome Type 2Stickler Syndrome Type 1Stickler SyndromeMucolipidosis Type 4X-linked Spinocerebellar Ataxia Type 4X-linked Spinocerebellar Ataxia Type 3X-linked Intellectual Disability - Ataxia - ApraxiaX-linked Progressive Cerebellar AtaxiaX-linked Non Progressive Cerebellar AtaxiaX-linked Cerebellar AtaxiaVitamin B12 Deficiency AtaxiaToxic Exposure AtaxiaUnclassified Autosomal Dominant Spinocerebellar AtaxiaThyroid Antibody AtaxiaSporadic Adult-onset Ataxia of Unknown EtiologySpinocerebellar Ataxia With Oculomotor AnomalySpinocerebellar Ataxia With EpilepsySpinocerebellar Ataxia With Axonal Neuropathy Type 2Spinocerebellar Ataxia Type 8Spinocerebellar Ataxia Type 7Spinocerebellar Ataxia Type 6Spinocerebellar Ataxia Type 5Spinocerebellar Ataxia Type 4Spinocerebellar Ataxia Type 37Spinocerebellar Ataxia Type 36Spinocerebellar Ataxia Type 35Spinocerebellar Ataxia Type 34Spinocerebellar Ataxia Type 32Spinocerebellar Ataxia Type 31Spinocerebellar Ataxia Type 30Spinocerebellar Ataxia Type 3Spinocerebellar Ataxia Type 29Spinocerebellar Ataxia Type 28Spinocerebellar Ataxia Type 27Spinocerebellar Ataxia Type 26Spinocerebellar Ataxia Type 25Spinocerebellar Ataxia Type 23Spinocerebellar Ataxia Type 22Spinocerebellar Ataxia Type 21Spinocerebellar Ataxia Type 20Spinocerebellar Ataxia Type 2Spinocerebellar Ataxia Type 19/22Spinocerebellar Ataxia Type 18Spinocerebellar Ataxia Type 17Spinocerebellar Ataxia Type 16Spinocerebellar Ataxia Type 15/16Spinocerebellar Ataxia Type 14Spinocerebellar Ataxia Type 13Spinocerebellar Ataxia Type 12Spinocerebellar Ataxia Type 11Spinocerebellar Ataxia Type 10Spinocerebellar Ataxia Type 1 With Axonal NeuropathySpinocerebellar Ataxia Type 1Spinocerebellar Ataxia - UnknownSpinocerebellar Ataxia - DysmorphismNon Progressive Epilepsy and/or Ataxia With Myoclonus as a Major FeatureSpasticity-ataxia-gait Anomalies SyndromeSpastic Ataxia With Congenital MiosisSpastic Ataxia - Corneal DystrophySpastic AtaxiaRare Hereditary AtaxiaRare AtaxiaRecessive Mitochondrial Ataxia SyndromeProgressive Epilepsy and/or Ataxia With Myoclonus as a Major FeaturePosterior Column Ataxia - Retinitis PigmentosaPost-Stroke AtaxiaPost-Head Injury AtaxiaPost Vaccination AtaxiaPolyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - CataractMuscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes MellitusNon-hereditary Degenerative AtaxiaParoxysmal Dystonic Choreathetosis With Episodic Ataxia and SpasticityOlivopontocerebellar Atrophy - DeafnessNARP SyndromeMyoclonus - Cerebellar Ataxia - DeafnessMultiple System Atrophy, Parkinsonian TypeMultiple System Atrophy, Cerebellar TypeMultiple System AtrophyMaternally-inherited Leigh SyndromeMachado-Joseph Disease Type 3Machado-Joseph Disease Type 2Machado-Joseph Disease Type 1Leigh SyndromeLate-onset Ataxia With DementiaInfection or Post Infection AtaxiaGAD AtaxiaHereditary Episodic AtaxiaGliadin/Gluten AtaxiaFriedreich AtaxiaFragile X-associated Tremor/Ataxia SyndromeFamilial Paroxysmal AtaxiaExposure to Medications AtaxiaEpisodic Ataxia With Slurred SpeechEpisodic Ataxia Unknown TypeEpisodic Ataxia Type 7Episodic Ataxia Type 6Episodic Ataxia Type 5Episodic Ataxia Type 4Episodic Ataxia Type 3Episodic Ataxia Type 1Epilepsy and/or Ataxia With Myoclonus as Major FeatureEarly-onset Spastic Ataxia-neuropathy SyndromeEarly-onset Progressive Neurodegeneration - Blindness - Ataxia - SpasticityEarly-onset Cerebellar Ataxia With Retained Tendon ReflexesEarly-onset Ataxia With DementiaChildhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar AtaxiaDilated Cardiomyopathy With AtaxiaCataract - Ataxia - DeafnessCerebellar Ataxia, Cayman TypeCerebellar Ataxia With Peripheral NeuropathyCerebellar Ataxia - HypogonadismCerebellar Ataxia - Ectodermal DysplasiaCerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing LossBrain Tumor AtaxiaBrachydactyly - Nystagmus - Cerebellar AtaxiaBenign Paroxysmal Tonic Upgaze of Childhood With AtaxiaAutosomal Recessive Syndromic Cerebellar AtaxiaAutosomal Recessive Spastic Ataxia With LeukoencephalopathyAutosomal Recessive Spastic Ataxia of Charlevoix-SaguenayAutosomal Recessive Spastic Ataxia - Optic Atrophy - DysarthriaAutosomal Recessive Spastic AtaxiaAutosomal Recessive Metabolic Cerebellar AtaxiaAutosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode PolyglutamineAutosomal Recessive Ataxia, Beauce TypeAutosomal Recessive Ataxia Due to Ubiquinone DeficiencyAutosomal Recessive Ataxia Due to PEX10 DeficiencyAutosomal Recessive Degenerative and Progressive Cerebellar AtaxiaAutosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 DeficiencyAutosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 DeficiencyAutosomal Recessive Congenital Cerebellar AtaxiaAutosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia SyndromeAutosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX DeficiencyAutosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD DeficiencyAutosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 DeficiencyAutosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability SyndromeAutosomal Recessive Cerebellar Ataxia With Late-onset SpasticityAutosomal Recessive Cerebellar Ataxia Due to STUB1 DeficiencyAutosomal Recessive Cerebellar Ataxia Due to a DNA Repair DefectAutosomal Recessive Cerebellar Ataxia - Saccadic IntrusionAutosomal Recessive Cerebellar Ataxia - Psychomotor RetardationAutosomal Recessive Cerebellar Ataxia - Blindness - DeafnessAutosomal Recessive Cerebellar AtaxiaAutosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine AnomalyAutosomal Dominant Spinocerebellar Ataxia Due to a Point MutationAutosomal Dominant Spinocerebellar Ataxia Due to a ChannelopathyAutosomal Dominant Spastic Ataxia Type 1Autosomal Dominant Spastic AtaxiaAutosomal Dominant Optic AtrophyAtaxia-telangiectasia VariantAtaxia-telangiectasiaAutosomal Dominant Cerebellar Ataxia, Deafness and NarcolepsyAutosomal Dominant Cerebellar Ataxia Type 4Autosomal Dominant Cerebellar Ataxia Type 3Autosomal Dominant Cerebellar Ataxia Type 2Autosomal Dominant Cerebellar Ataxia Type 1Autosomal Dominant Cerebellar AtaxiaAtaxia-telangiectasia-like DisorderAtaxia With Vitamin E DeficiencyAtaxia With DementiaAtaxia - Oculomotor Apraxia Type 1Ataxia - OtherAtaxia - Genetic Diagnosis - UnknownAcquired AtaxiaAdult-onset Autosomal Recessive Cerebellar AtaxiaAlcohol Related AtaxiaMultiple Endocrine NeoplasiaMultiple Endocrine Neoplasia Type IIMultiple Endocrine Neoplasia Type 1Multiple Endocrine Neoplasia Type 2Multiple Endocrine Neoplasia, Type IVMultiple Endocrine Neoplasia, Type 3Multiple Endocrine Neoplasia (MEN) SyndromeMultiple Endocrine Neoplasia Type 2BMultiple Endocrine Neoplasia Type 2AAtypical Hemolytic Uremic SyndromeAtypical HUSWiedemann-Steiner SyndromeBreast Implant-Associated Anaplastic Large Cell LymphomaAutoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA)Hemophagocytic LymphohistiocytosisBehcet's DiseaseAlagille SyndromeInclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD)Lowe SyndromePitt Hopkins Syndrome1p36 Deletion SyndromeJansen Type Metaphyseal ChondrodysplasiaCockayne SyndromeChronic Recurrent Multifocal OsteomyelitisCRMOMalan SyndromeHereditary Sensory and Autonomic Neuropathy Type IeVCP DiseaseHypnic JerkingSleep MyoclonusMollaret MeningitisRecurrent Viral MeningitisCRB1Leber Congenital AmaurosisRetinitis PigmentosaRare Retinal DisorderKCNMA1-ChannelopathyPrimary Biliary CirrhosisZMYND11Transient Global AmnesiaGlycogen Storage DiseaseAlstrom SyndromeWhite Sutton SyndromeDNM1EIEE31Myhre SyndromeRecurrent Respiratory PapillomatosisLaryngeal PapillomatosisTracheal PapillomatosisRefsum DiseaseNicolaides Baraitser SyndromeLeukodystrophyTango2Cauda Equina SyndromeRare Gastrointestinal DisordersAchalasia-Addisonian SyndromeAchalasia CardiaAchalasia Icrocephaly SyndromeAnal FistulaCongenital Sucrase-Isomaltase DeficiencyEosinophilic GastroenteritisIdiopathic GastroparesisHirschsprung DiseaseRare Inflammatory Bowel DiseaseIntestinal Pseudo-ObstructionSclerodermaShort Bowel SyndromeSacral AgenesisSacral Agenesis SyndromeCaudal RegressionScheuermann DiseaseSMC1A Truncated Mutations (Causing Loss of Gene Function)CystinosisJuvenile Nephropathic CystinosisNephropathic CystinosisKennedy DiseaseSpinal Bulbar Muscular AtrophyWarburg Micro SyndromeMucolipidosesMitochondrial DiseasesMitochondrial Aminoacyl-tRNA SynthetasesMt-aaRS DisordersHypertrophic Olivary DegenerationNon-Ketotic HyperglycinemiaFish Odor SyndromeHalitosisIsolated Congenital AspleniaLambert Eaton (LEMS)Biliary AtresiaSTAG1 Gene MutationCoffin Lowry SyndromeBorjeson-Forssman-Lehman SyndromeBlau SyndromeArginase 1 DeficiencyHSPB8 MyopathyBeta-MannosidosisTBX4 SyndromeDHDDS Gene MutationsMAND-MBD5-Associated Neurodevelopmental DisorderConstitutional Mismatch Repair Deficiency (CMMRD)SPATA5 DisorderSPATA5L1 Related DisorderAcrodysostosisMulti-systematic Smooth Muscle Dysfunction SyndromeCRELD1 (Cysteine Rich With EGF Like Domains 1)GNB1 SyndromePyruvate Dehydrogenase Complex Deficiency DiseaseBeta MannosidosisKbg SyndromeLabrune SyndromeMetachromatic Leukodystrophy (MLD)Moyamoya DiseaseOPHN1 SyndromeOculopharyngeal Muscular Dystrophy (OPMD)TUBB3 MutationWOREE (WWOX-related Epileptic EncephalopathySCAR12Skraban-Deardorff SyndromeHereditary Myopathy With Early Respiratory Failure

Keywords

Rare DiseasesNeglected DiseasesOrphan DiseasesRare Disease ResearchRegistriesWAGR SyndromeAtaxiaCornelia de Lange SyndromeStickler SyndromeAtaxia TelangiectasiaKawasaki DiseaseBatten DiseaseMucolipidosis IVKlippel-Feil SyndromeMultiple Endocrine NeoplasiaAtypical Hemolytic Uremic SyndromeUndiagnosedUncommon DiseaseKabuki SyndromeHypersomniaHyperacusisKleine-Levin SyndromeMarinesco-Sjogren SyndromeLeiomyosarcoma4p-/Wolf-Hirschhorn SyndromeHypophosphatasiaNarcolepsyWiedermann-Steiner SyndromeBreast Implant-Associated Anaplastic Large Cell LymphomaAutoimmune/inflammatory Syndrome Induced by Adjuvants (ASIA)Hemophagocytic Lymphohistiocytosis (HLH)Behcet's DiseaseAlagille SyndromeInclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)Lowe SyndromePitt Hopkins Syndrome1p36 deletion syndromeJansen metaphyseal chondrodysplasiaCockayne SyndromeChronic recurrent multifocal osteomyelitis (CRMO)Malan syndromeHereditary Sensory and Autonomic NeuropathyCystinosisJuvenile nephropathic cystinosisNephropathic infantile cystinosisOcular cystinosisKennedy diseaseSpinal Bulbar Muscular Atrophy (SBMA)SMC1A Truncated Mutations (causing loss of gene function)Leigh syndromeWarburg Micro SyndromeMucolipidosisMitochondrial aminoacyl-tRNA synthetases (Mt-aaRS Disorders)Shine SyndromeHypertrophic Olivary DegenerationNon-Ketotic HyperglycinemiaIntestinal Bromhidrosis SyndromeFish odor syndromeAutosomal recessive extra oral halitosisCACNA1H mutationDimethylglycine dehydrogenase deficiency

Outcome Measures

Primary Outcomes (1)

  • To accelerate research into rare disorders by connecting individuals who are interested in research and who have been diagnosed with a rare disorder (or a disorder of unknown prevalence, or who are undiagnosed) with researchers who study rare diseases.

    100 years

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Unaffected carriers, undiagnosed and those with a rare disease or rare condition.

You may qualify if:

  • Diagnosis of a rare disease, a disease of unknown prevalence, undiagnosed or an unaffected carrier of a rare/uncommon disease

You may not qualify if:

  • Diagnosis of a disease which is not rare

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

Sanford Health

Sioux Falls, South Dakota, 57104, United States

RECRUITING

Online Patient Enrollment System

Sydney, Australia

RECRUITING

Related Links

Biospecimen

Retention: NONE RETAINED

Biospecimen collection capability anticipated in 2014.

MeSH Terms

Conditions

De Lange SyndromeHypophosphatasia, Perinatal LethalOdontohypophosphatasiaHypophosphatasia, AdultHypophosphatasia, ChildhoodHypophosphatasiaKabuki syndromeBohring syndromeNarcolepsyDisorders of Excessive SomnolenceIdiopathic HypersomniaKleine-Levin SyndromeMucocutaneous Lymph Node SyndromeLeiomyosarcomaAddison DiseaseHyperacusisMyasthenia Gravis, NeonatalWilliams SyndromeLyme DiseaseMyasthenia GravisSpinocerebellar DegenerationsFrasier SyndromeDenys-Drash SyndromeBeckwith-Wiedemann SyndromeEmanuel syndromeAxenfeld-Rieger syndromeAniridia, Partial, with Unilateral Renal Agenesis and Psychomotor RetardationAniridia and Absent PatellaAniridiaPeters anomalyPotocki-Shaffer syndromeWAGR SyndromeWolf-Hirschhorn SyndromeStickler syndrome, type 2Stickler syndrome, type 1MucolipidosesSpinocerebellar ataxia, X-linked, 4Spinocerebellar ataxia, X-linked, 3Spinocerebellar Ataxia with EpilepsySpinocerebellar ataxia, autosomal recessive 1Spinocerebellar ataxia 8Spinocerebellar AtaxiasErythrokeratodermia with ataxiaSpinocerebellar Ataxia 31Spinocerebellar ataxia 30Machado-Joseph DiseaseSpinocerebellar Ataxia 15Spinocerebellar ataxia 28Spinocerebellar ataxia 27Spinocerebellar ataxia 26Spinocerebellar ataxia 25Spinocerebellar ataxia 23Spinocerebellar ataxia 21Spinocerebellar ataxia 20Sensorimotor neuropathy with ataxia, autosomal dominantOlivopontocerebellar Atrophy VSpinocerebellar ataxia 14Spinocerebellar ataxia 13Spinocerebellar Ataxia 12Spinocerebellar Ataxia 11Spinocerebellar Ataxia 10Ataxia, Spastic, with Congenital MiosisSpastic AtaxiaAtaxia Neuropathy SpectrumPolyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And CataractMuscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes MellitusMuscle SpasticityNeuropathy ataxia and retinitis pigmentosaMyoclonus, Cerebellar Ataxia, and DeafnessMultiple System AtrophyMaternally Inherited Leigh SyndromeLeigh DiseaseInfectionsFriedreich AtaxiaFragile X Tremor Ataxia SyndromeEpisodic Ataxia, Type 2Episodic Ataxia, Type 7Episodic Ataxia, Type 6Episodic Ataxia, Type 5Episodic Ataxia, Type 4Episodic Ataxia, Type 3Episodic Ataxia, Type 1Harding ataxiaSpinocerebellar Ataxia, Autosomal Recessive 73-Methylglutaconic Aciduria, Type VCataract ataxia deafnessCerebellar Ataxia, Cayman TypeCerebellar Ataxia and Hypogonadotropic HypogonadismCerebellar ataxia ectodermal dysplasiaCAPOS syndromeBrachydactyly-Nystagmus-Cerebellar AtaxiaParoxysmal Tonic Upgaze, Benign Childhood, With AtaxiaAtaxia, Spastic, 3, Autosomal RecessiveSpastic ataxia Charlevoix-Saguenay typeSpinocerebellar Ataxia, Autosomal Recessive 8Spinocerebellar ataxia, autosomal recessive 3Optic Atrophy, Autosomal DominantAtaxia-Telangiectasia VariantAtaxia TelangiectasiaDeafnessAtaxia Telangiectasia Like DisorderAtaxia with vitamin E deficiencyEarly-onset ataxia with oculomotor apraxia and hypoalbuminemiaMultiple Endocrine NeoplasiaMultiple Endocrine Neoplasia Type 2aMultiple Endocrine Neoplasia Type 1Multiple Endocrine Neoplasia, Type IVMultiple Endocrine Neoplasia Type 2bSyndromeAtypical Hemolytic Uremic SyndromeGrowth Deficiency and Mental Retardation with Facial DysmorphismLymphohistiocytosis, HemophagocyticAlagille SyndromeFrontotemporal DementiaInclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal DementiaOculocerebrorenal SyndromePitt-Hopkins syndromeChromosome 1p36 Deletion SyndromeJansen type metaphyseal chondrodysplasiaCockayne SyndromeChronic recurrent multifocal osteomyelitisHereditary Sensory and Autonomic Neuropathy Type IeMyoclonusMeningitis, ViralLeber Congenital AmaurosisRetinitis PigmentosaLiver Cirrhosis, BiliaryAmnesia, Transient GlobalGlycogen Storage DiseaseAlstrom SyndromeGrowth mental deficiency syndrome of MyhreRecurrent respiratory papillomatosisLaryngeal papillomatosisRefsum DiseaseNicolaides Baraitser syndromeCauda Equina SyndromeAchalasia Addisonianism Alacrimia syndromeEsophageal AchalasiaRectal FistulaSucrase-isomaltase deficiency, congenitalEosinophilic enteropathyHirschsprung DiseaseIntestinal Pseudo-ObstructionScleroderma, DiffuseShort Bowel SyndromeSacral defect and anterior sacral meningoceleSacral Agenesis SyndromeScheuermann DiseaseCystinosisCystinosis, Late-Onset Juvenile or Adolescent Nephropathic TypeBulbo-Spinal Atrophy, X-LinkedWarburg Sjo Fledelius syndromeMitochondrial DiseasesOlivary DegenerationHyperglycinemia, NonketoticTrimethylaminuriaHalitosisLambert-Eaton Myasthenic SyndromeBiliary AtresiaCoffin-Lowry SyndromeBlau syndromeHyperargininemiabeta-MannosidosisTurcot syndromeAcrodysostosisPyruvate Dehydrogenase Complex Deficiency DiseaseKBG syndromeLeukoencephalopathy Brain Calcifications and CystsLeukodystrophy, MetachromaticMoyamoya DiseaseMuscular Dystrophy, OculopharyngealHereditary Myopathy with Early Respiratory FailureRare DiseasesNeglected DiseasesAtaxiaNeuronal Ceroid-LipofuscinosesKlippel-Feil SyndromeHereditary Sensory and Autonomic NeuropathiesCystinosis, Infantile NephropathicDimethylglycine Dehydrogenase Deficiency

Condition Hierarchy (Ancestors)

Intellectual DisabilityNeurobehavioral ManifestationsNeurologic ManifestationsNervous System DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesChromosome DisordersGenetic Diseases, InbornMetal Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsMetabolic DiseasesNutritional and Metabolic DiseasesSleep Disorders, IntrinsicDyssomniasSleep Wake DisordersMental DisordersVasculitisVascular DiseasesCardiovascular DiseasesLymphatic DiseasesHemic and Lymphatic DiseasesSkin Diseases, VascularSkin DiseasesSkin and Connective Tissue DiseasesNeoplasms, Muscle TissueNeoplasms, Connective and Soft TissueNeoplasms by Histologic TypeNeoplasmsSarcomaAdrenal InsufficiencyAdrenal Gland DiseasesEndocrine System DiseasesAutoimmune DiseasesImmune System DiseasesHearing DisordersEar DiseasesOtorhinolaryngologic DiseasesSensation DisordersSigns and SymptomsPathological Conditions, Signs and SymptomsAutoimmune Diseases of the Nervous SystemNeuromuscular Junction DiseasesNeuromuscular DiseasesAortic Stenosis, SupravalvularAortic Valve StenosisAortic Valve DiseaseHeart Valve DiseasesHeart DiseasesGram-Negative Bacterial InfectionsBacterial InfectionsBacterial Infections and MycosesBorrelia InfectionsSpirochaetales InfectionsTick-Borne DiseasesVector Borne DiseasesParaneoplastic Syndromes, Nervous SystemNervous System NeoplasmsNeoplasms by SiteParaneoplastic SyndromesNeurodegenerative DiseasesCerebellar DiseasesBrain DiseasesCentral Nervous System DiseasesSpinal Cord DiseasesHeredodegenerative Disorders, Nervous SystemDisorder of Sex Development, 46,XYDisorders of Sex DevelopmentUrogenital AbnormalitiesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesKidney Failure, ChronicRenal Insufficiency, ChronicRenal InsufficiencyKidney DiseasesUrologic DiseasesMale Urogenital DiseasesGonadal DisordersChronic DiseaseDisease AttributesPathologic ProcessesWilms TumorNeoplasms, Complex and MixedKidney NeoplasmsUrologic NeoplasmsUrogenital NeoplasmsNeoplastic Syndromes, HereditaryImprinting DisordersEye AbnormalitiesEye DiseasesEye Diseases, HereditaryIris DiseasesUveal DiseasesBone Diseases, MetabolicBone DiseasesMusculoskeletal DiseasesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicCarbohydrate Metabolism, Inborn ErrorsLysosomal Storage DiseasesCerebellar AtaxiaDyskinesiasMuscular DiseasesMuscle HypertoniaNeuromuscular ManifestationsPrimary DysautonomiasAutonomic Nervous System DiseasesBasal Ganglia DiseasesMovement DisordersSynucleinopathiesPyruvate Metabolism, Inborn ErrorsOptic Atrophies, HereditaryOptic AtrophyOptic Nerve DiseasesCranial Nerve DiseasesNeurocutaneous SyndromesTelangiectasisPrimary Immunodeficiency DiseasesDNA Repair-Deficiency DisordersImmunologic Deficiency SyndromesHearing LossEndocrine Gland NeoplasmsNeoplasms, Multiple PrimaryDiseaseHemolytic-Uremic SyndromeUremiaAnemia, HemolyticAnemiaHematologic DiseasesThrombotic MicroangiopathiesThrombocytopeniaBlood Platelet DisordersCytopeniaHistiocytosis, Non-Langerhans-CellHistiocytosisCholestasis, IntrahepaticCholestasisBile Duct DiseasesBiliary Tract DiseasesDigestive System DiseasesLiver DiseasesHeart Defects, CongenitalCardiovascular AbnormalitiesFrontotemporal Lobar DegenerationDementiaTDP-43 ProteinopathiesProteostasis DeficienciesNeurocognitive DisordersRenal Tubular Transport, Inborn ErrorsGenetic Diseases, X-LinkedAmino Acid Transport Disorders, InbornDwarfismBone Diseases, DevelopmentalCentral Nervous System Viral DiseasesCentral Nervous System InfectionsVirus DiseasesMeningitisNeuroinflammatory DiseasesRetinal DiseasesRetinal DystrophiesRetinal DegenerationLiver CirrhosisFibrosisAmnesiaMemory DisordersHereditary Sensory and Motor NeuropathyNervous System MalformationsPolyneuropathiesPeripheral Nervous System DiseasesCiliopathiesPeroxisomal DisordersNerve Compression SyndromesPolyradiculoneuropathyEsophageal Motility DisordersDeglutition DisordersEsophageal DiseasesGastrointestinal DiseasesIntestinal FistulaDigestive System FistulaIntestinal DiseasesRectal DiseasesFistulaPathological Conditions, AnatomicalDigestive System AbnormalitiesMegacolonColonic DiseasesIleusIntestinal ObstructionScleroderma, SystemicConnective Tissue DiseasesMalabsorption SyndromesPostoperative ComplicationsSpinal OsteochondrosisOsteochondrosisKyphosisSpinal CurvaturesSpinal DiseasesMuscular Atrophy, SpinalMotor Neuron DiseaseAmino Acid Metabolism, Inborn ErrorsSigns and Symptoms, DigestiveX-Linked Intellectual DisabilityUrea Cycle Disorders, InbornMannosidase Deficiency DiseasesHereditary Central Nervous System Demyelinating DiseasesSulfatidosisSphingolipidosesLeukoencephalopathiesDemyelinating DiseasesLipidosesLipid Metabolism, Inborn ErrorsLipid Metabolism DisordersCarotid Artery DiseasesCerebrovascular DisordersCerebral Arterial DiseasesIntracranial Arterial DiseasesArterial Occlusive DiseasesMuscular DystrophiesMuscular Disorders, AtrophicDysostosesMusculoskeletal Abnormalities

Central Study Contacts

CoRDS Team

CONTACT

1-877-658-9192cords@sanfordhealth.org

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Target Duration
100 Years
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

February 13, 2013

First Posted

February 15, 2013

Study Start

July 1, 2010

Primary Completion (Estimated)

December 1, 2100

Study Completion (Estimated)

December 1, 2100

Last Updated

May 29, 2025

Record last verified: 2025-05

Data Sharing

IPD Sharing
Will share

Deidentified participant data is shared with contracted patient advocacy groups for non-research purposes. Parties interested in accessing data are welcome to apply (cost-free) at http://www.sanfordresearch.org/cords/researchers/.

Locations

US(1)AU(1)