NCT02345200

Brief Summary

Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility. In addition to that, a high percentage of patients show dystrophy, growth retardation and poor weight gain. Nevertheless, there are only a few studies assessing this problem. Aim of the present proposal is to investigate the exact body composition, manual muscle strength and hormonal status in patients with A-T compared to healthy controls matched for gender and age. A pelvic sonography in females was performed in order to evaluate the sexual maturity of their inner genitalia. Tanner score was determined to define the physical development. Every subject received a nutritional diary to review its calorie intake and the quality of diet. The investigators expect that the A-T cohort shows an altered body composition, impaired muscle strength, changed hormonal status concerning the sexual hormones and a delayed physical development compared to healthy controls.

Trial Health

100
On Track

Trial Health Score

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

Enrollment
52

participants targeted

Target at P25-P50 for not_applicable

Timeline
Completed

Started Apr 2013

Status
completed

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 Start

First participant enrolled

April 1, 2013

Completed
1 year until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 1, 2014

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

April 1, 2014

Completed
10 months until next milestone

First Submitted

Initial submission to the registry

January 19, 2015

Completed
7 days until next milestone

First Posted

Study publicly available on registry

January 26, 2015

Completed
Last Updated

January 26, 2015

Status Verified

January 1, 2015

Enrollment Period

1 year

First QC Date

January 19, 2015

Last Update Submit

January 22, 2015

Conditions

Ataxia Telangiectasia

Keywords

dystrophybody compositionmalnutrition

Outcome Measures

Primary Outcomes (1)

  • Body mass index

    12 months

Study Arms (2)

Ataxia telangiectasia

ACTIVE COMPARATOR

26 patients with clinically and/or genetically diagnosed Ataxia telangiectasia will be examined with bioelectrical impedance analysis (BIA), muscle force measurement, calipometry and get a blood draw

Procedure: bioelectrical impedance analysisProcedure: blood draw

Healthy subjects

ACTIVE COMPARATOR

26 age and sex matched subjects without any chronic disease or hormone displacement will be examined with bioelectrical impedance analysis (BIA), muscle force measurement, calipometry and get a blood draw

Procedure: bioelectrical impedance analysisProcedure: blood draw

Interventions

bioelectrical impedance analysisPROCEDURE

electrophysical measurement that allows to determine the exact composition of single body compartments by producing a magnetic field and detecting the potential difference through the body

Ataxia telangiectasiaHealthy subjects
blood drawPROCEDURE

blood samples are taken at 8 am in order to pay attention to the circadian rhythmicity to get a detailed hormonal status

Ataxia telangiectasiaHealthy subjects

Eligibility Criteria

Age2 Years - 45 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64)

You may qualify if:

  • aim group: clinically and/or genetically diagnosed A-T
  • control group: age and sex matched healthy subjects
  • age 2-45 years
  • written informed consent

You may not qualify if:

  • age \< 2 or \> 45 years
  • other diseases with influence on the immunosystem (i.e. diabetes mellitus, malignoma, dialysis-dependent renal failure)
  • current medication with hormones

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Related Publications (8)

  • DUNN HG, MEUWISSEN H, LIVINGSTONE CS, PUMP KK. ATAXIA-TELANGIECTASIA. Can Med Assoc J. 1964 Nov 21;91(21):1106-18.

    PMID: 14229760BACKGROUND

  • Schubert R, Reichenbach J, Zielen S. Growth factor deficiency in patients with ataxia telangiectasia. Clin Exp Immunol. 2005 Jun;140(3):517-9. doi: 10.1111/j.1365-2249.2005.02782.x.

    PMID: 15932513BACKGROUND

  • Voss S, Pietzner J, Hoche F, Taylor AM, Last JI, Schubert R, Zielen S. Growth retardation and growth hormone deficiency in patients with Ataxia telangiectasia. Growth Factors. 2014 Jun;32(3-4):123-9. doi: 10.3109/08977194.2014.939805.

    PMID: 25060036BACKGROUND

  • Kieslich M, Hoche F, Reichenbach J, Weidauer S, Porto L, Vlaho S, Schubert R, Zielen S. Extracerebellar MRI-lesions in ataxia telangiectasia go along with deficiency of the GH/IGF-1 axis, markedly reduced body weight, high ataxia scores and advanced age. Cerebellum. 2010 Jun;9(2):190-7. doi: 10.1007/s12311-009-0138-0.

    PMID: 19898915BACKGROUND

  • Cosentino C, Grieco D, Costanzo V. ATM activates the pentose phosphate pathway promoting anti-oxidant defence and DNA repair. EMBO J. 2011 Feb 2;30(3):546-55. doi: 10.1038/emboj.2010.330. Epub 2010 Dec 14.

    PMID: 21157431BACKGROUND

  • Baldin AD, Fabbri T, Siviero-Miachon AA, Spinola-Castro AM, de Lemos-Marini SH, Baptista MT, D'Souza-Li LF, Maciel-Guerra AT, Guerra-Junior G. Growth hormone effect on body composition in Turner syndrome. Endocrine. 2011 Dec;40(3):486-91. doi: 10.1007/s12020-011-9504-z. Epub 2011 Jul 1.

    PMID: 21720878BACKGROUND

  • Menotta M, Biagiotti S, Bianchi M, Chessa L, Magnani M. Dexamethasone partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia telangiectasia by promoting a shortened protein variant retaining kinase activity. J Biol Chem. 2012 Nov 30;287(49):41352-63. doi: 10.1074/jbc.M112.344473. Epub 2012 Oct 10.

    PMID: 23055520BACKGROUND

  • Pommerening H, van Dullemen S, Kieslich M, Schubert R, Zielen S, Voss S. Body composition, muscle strength and hormonal status in patients with ataxia telangiectasia: a cohort study. Orphanet J Rare Dis. 2015 Dec 9;10:155. doi: 10.1186/s13023-015-0373-z.

    PMID: 26645295DERIVED

MeSH Terms

Conditions

Ataxia TelangiectasiaMalnutrition

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Spinocerebellar AtaxiasCerebellar AtaxiaCerebellar DiseasesBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesNeurocutaneous SyndromesAtaxiaDyskinesiasNeurologic ManifestationsTelangiectasisVascular DiseasesCardiovascular DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesPrimary Immunodeficiency DiseasesDNA Repair-Deficiency DisordersMetabolic DiseasesNutritional and Metabolic DiseasesImmunologic Deficiency SyndromesImmune System DiseasesNutrition Disorders

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative Techniques

Study Officials

  • Stefan Zielen, Prof. Dr.

    University Childrens´ Hospital Frankfurt

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
SUPPORTIVE CARE
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Prof. Dr. med.

Study Record Dates

First Submitted

January 19, 2015

First Posted

January 26, 2015

Study Start

April 1, 2013

Primary Completion

April 1, 2014

Study Completion

April 1, 2014

Last Updated

January 26, 2015

Record last verified: 2015-01