RCDP Natural History Study
A Prospective Natural History Study of Patients With Rhizomelic Chondrodysplasia Punctata (RCDP)
1 other identifier
observational
75
1 country
1
Brief Summary
A prospective, longitudinal observational trial in patients with RCDP. Study participants will be evaluated at baseline and approximately every 6 months by the study team. Quality of life, physiologic and functional measurements will be performed. In addition, audiologic recordings and other surveys will be completed at home by parents beginning at baseline and every 3-6 months thereafter.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for all trials
Started Jun 2019
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
June 13, 2019
CompletedStudy Start
First participant enrolled
June 18, 2019
CompletedFirst Posted
Study publicly available on registry
July 24, 2019
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 1, 2020
CompletedStudy Completion
Last participant's last visit for all outcomes
June 1, 2021
CompletedAugust 2, 2019
August 1, 2019
1.5 years
June 13, 2019
August 1, 2019
Conditions
Outcome Measures
Primary Outcomes (30)
Medical History
History collection will be obtained from parents/caretakers and medical records which will be provided or subsequently obtained in a HIPAA compliant manner.
18 months
Body Temperature
Temperature will be recorded using standard clinical methodology and reported in degrees Celsius.
18 months
Respiratory Rate
Respiratory rate will be determined by counting number of breaths per minute
18 months
Heart Rate
Heart rate will be reported as beats per minute
18 months
Blood pressure
Systolic and diastolic pressure will be reported in mmHG
18 months
Physical Examination: General Appearance
Reported as "Normal, Abnormal or Not Done". If abnormal, comments will be provided.
18 months
Physical Examination: Head, Eyes, Ears, Nose and Throat
Reported as "Normal, Abnormal or Not Done". If abnormal, comments will be provided.
18 months
Physical Examination: Cardiovascular
Reported as "Normal, Abnormal or Not Done". If abnormal, comments will be provided.
18 months
Physical Examination: Dermatologic
Reported as "Normal, Abnormal or Not Done". If abnormal, comments will be provided.
18 months
Physical Examination: Lymphatic
Reported as "Normal, Abnormal or Not Done". If abnormal, comments will be provided.
18 months
Physical Examination: Respiratory
Reported as "Normal, Abnormal or Not Done". If abnormal, comments will be provided.
18 months
Physical Examination: Gastrointestinal
Reported as "Normal, Abnormal or Not Done". If abnormal, comments will be provided.
18 months
Physical Examination: Genitourinary
Reported as "Normal, Abnormal or Not Done". If abnormal, comments will be provided.
18 months
Physical Examination: Neurologic System
Reported as "Normal, Abnormal or Not Done". If abnormal, comments will be provided.
18 months
Physical Examination: FLACC Behavioural Scale
The standardized FLACC (Faces, Legs, Activity, Consolability) questionnaire will be performed and the score reported.
18 months
Anthropometric Measurement: Length/Height
Height (Length) will be reported in centimetres
18 months
Anthropometric Measurement: Weight
Weight will be reported in kg
18 months
Anthropometric Measurement: Head Circumference
Head Circumference will be reported in cm
18 months
Anthropometric Measurement: Chest Circumference
Chest Circumference will be reported in cm
18 months
Anthropometric Measurement: Abdominal Circumference
Abdominal Circumference will be reported in cm
18 months
Observational pain assessment
Frequency and severity of patient exhibited pain symptoms will be evaluated with two parent-completed questionnaires, The Non-Communicating Children's Pain Checklist- Revised (NCCPC-R) and the Pediatric Pain Scale (PPS)19 (Appendix G). The NCCPC-R is a 7 domain questionnaire that is validated for assessment of pain in children aged 3-18 years who have cognitive and communication impairments. The PPS has 20 domains with a rating scale for each which is also designed to assess symptoms of pain in individuals with communication impairment. Both questionnaires will be completed during the study visits 2 hours after the end of the first morning feed. In addition, the NCCPC-R will be completed by the family 3 months after each visit at the same time interval after the first morning feed.
18 months
Musculoskeletal system assessment
Musculoskeletal evaluations will be done together by a physiatrist and physical therapy. These assessments will include: assessments of strength, endurance, functional movement and control of extremities, head/neck and trunk. Assessment of muscle tone and passive and active joint range of motion will be made both qualitative and quantitatively for each major joint. Assessment of cognitive engagement will also be made. To assess the motor function and its changes over time, we propose to use Gross Motor Function Measures (GMFM-88), which is a freely available tool validated to evaluate motor skills in cerebral palsy and Down syndrome.
18 months
Nerve conduction
Patients will be placed in a supine position and electrodes will be placed over the hypothenar eminence, 5th digit and dorsal hand. Stimulations will be done at the wrist and above and below the elbow. These electrodes will be connected to the Natus UltraPro S100 machine. This unit will measure nerve conduction for motor and sensory components. The evaluation will assess nerve latencies, compound motor unit and sensory nerve action potential amplitudes and nerve conduction velocities. These values will be compared to age adjusted normal values for the ulnar nerve.
18 months
Pulmonary function
A combination of Impulse oscillometry system (IOS), Pneumotachography (PNT) and Respiratory Inductance Plethysmography (RIP) will be used to derive pulmonary indices comparable to spirometry.
18 months
Seizure status by EEG
Assessments of brain electrical and seizure activity will take place through electroencephalograms (EEGs) at each study visit. Each EEG will last 4 hours and will be scheduled to optimally include both awake and sleep phases. Using the 10-20 International System, the patient's head will be measured and marked for proper electrode placement. Heart rate and rhythm are monitored throughout the EEG by placement of two electrocardiogram electrodes. Electrical activity is then recorded along with a video feed using the Nicolet NicOne acquisition and Xltek brain monitor machines.
18 months
Bone Density and Body Composition by DEXA
The DEXA scans will be performed in the Medical Imaging Department of Nemours/A.I. duPont Hospital for Children on a Hologic Discovery A QDR bone densitometer (Hologic, Inc., Bedford, MA). Subjects will remove all clothing with metal components prior to DEXA scan to eliminate any possible imaging artifacts; a hospital gown will be provided to the subjects. Standard positioning techniques will be used to acquire the scans. Body sites measured will include the whole body, lumbar spine, and lateral distal femurs of both legs. The following variables will be collected from each scan: bone mineral density (BMD), bone mineral content (BMC), and bone area.
18 months
Plasmalogen Level
A 100 ul aliquot of the separated serum will be stored at -80 °C and subsequently shipped to Med-Life Discoveries by priority overnight shipment in dry ice. Analyses will include levels of phosphoethanolamines, vinylacylglycerol (VAG), alkylacylglycerol (AAG) and results reported as quantitative concentrations for each metabolite.
18 months
Clinical Chemistry
Serum will be processed locally for complete blood count (CBC) and standard comprehensive metabolic profile with phosphorus (CMP with PO4).
18 months
Fatigue status
18 months
Gastrointestinal and Feeding status
To assess level of dysfunction in swallowing, a parent report measure, the Pediatric Assessment Scale for Severe Feeding Problems, designed to assess progress in the development of oral eating skills for children who need prolonged tube feeding will be used. The total score will be used as a quantifiable measure. This questionnaire will be completed during each study visit as well as at home 3 months after each visit. This 13 question interview provides a total score which indicates the level of GI symptom burden.
18 months
Eligibility Criteria
Patients with a diagnosis of RCDP are eligible.
You may qualify if:
- Diagnosis of RCDP age range 6 months to 21 years
- A clinical diagnosis of RCDP confirmed with biochemical parameters defined as C16:0 plasmalogen level of less than or equal to 0.75 of the lower limit of the normal reference range AND normal very long chain fatty acid levels.
You may not qualify if:
- Disease severity: The study physician will decide whether the child is too ill to travel due to chronic or acute severe cardiac or respiratory compromise.
- Guardian or a care-giver who is not available or not capable of providing accurate information about the patient.
- Involvement in any other clinical trial.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Alfred I. DuPont Hospital for Children
Wilmington, Delaware, 19803, United States
Biospecimen
Blood samples
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Michael Bober, MD
The Nemours Foundation
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- CASE ONLY
- Time Perspective
- PROSPECTIVE
- Target Duration
- 18 Months
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
June 13, 2019
First Posted
July 24, 2019
Study Start
June 18, 2019
Primary Completion
December 1, 2020
Study Completion
June 1, 2021
Last Updated
August 2, 2019
Record last verified: 2019-08