Cockayne SyndromeNCT00985413
Observational Study to Assess Natural History in Cockayne Syndrome Patients
An observational study of Cockayne Syndrome, run by DNage B.V. at 4 sites in 3 countries.
Trial summary
This is an Observational Study of children under the age of 11 diagnosed with Cockayne Syndrome to assess the natural progression of Cockayne Syndrome disease, with special attention to hearing and physical changes in length or height, weight, head circumference, and arm span during standard treatment. Read more about this study
- Who is it for?
- Ages 1 year to 11 years
- Conditions the study is for
- Cockayne Syndrome
- How many people
- 40 participants
- Where
- 4 sitesin 3 countries
- Study dates
- Sep 2009to Feb 2011
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 11 years
- All sexes
- No healthy volunteers
- Child
Study population: Pediatric patients up to 10 years of age for females and up to 11 years of age for males who have received a diagnosis of Cockayne Syndrome
Who may be able to join
- Pediatric patients with a documented diagnosis of CS, as suggested by clinical features and possible confirmation by genetic consultation and analysis
- Age of participation:
- At least 12 months of age at the time of signing Informed Consent/Assent
- Female patient's age will not be greater than 10 years of age at the time of signing Informed Consent/Assent
- Male patient's age will not be greater than 11 years of age at the time of signing Informed Consent/Assent
Who cannot join
- Severe contractures or physical deformities that in the opinion of the investigator would prevent accurate measurement of height, length and ulna length
- Patients that have taken growth hormone or growth hormone related medications within 12 months prior to the date of Informed Consent/Assent
- Known history of inborn error of hyperprolinemia (Type I or Type II)
- Clinical features present at the time of initial screening that are associated with the terminal phases of the natural progression of CS suggesting safe travel and completion of the study and its assessments to be unlikely as judged by the Investigator, including any of the following:
- Continuous or intermittent dependence on supplemental oxygen at home during the prior six months
- Two or more hospitalizations for pneumonia during the prior 12 months;
- A documented net weight loss of at least 10%, which has not been recovered and which includes a significant net weight loss (beyond the estimated error of the measurement) over the most recent 6 months, despite intensive nutritional support including the use of gastrostomy tube feedings
- Presence of scoliosis with a Cobb's angle of 30º or greater
Trial locations and contacts
4 sites in 3 countries.
4 sites in 3 countries
United States2 sites
Harvard medical School, Children's Hospital Boston, Division of Genetics & Metabolism
Boston, Massachusetts, 02115
New York University Medical Center
New York, New York, 10016
France1 site
Hopitaux Universitaires de Strasbourg, Service de Pédiatrie 1
Strasbourg, Cedex, 67098
United Kingdom1 site
St. Mary's Hospital, Genetic Medicine, 6th Floor, Oxford Road
Manchester, M13 9 WL
About this study
Official title: An Observational Study to Assess the Natural History Including Growth and Hearing in Patients With Cockayne Syndrome
This is an Observational Study of children under the age of 11 diagnosed with Cockayne Syndrome to assess the natural progression of Cockayne Syndrome disease, with special attention to hearing and physical changes in length or height, weight, head circumference, and arm span during standard treatment.
The primary analytical objective is to determine the rate of linear growth over a 6-month period in children < 2 years of age and over a 12-month period in children ≥ 2 years of age.
- Conditions
- Cockayne Syndrome
- Keywords
- Cockayne Syndrome, pediatrics, growth, hearing, Ageing
- Medical subject headings
- Cockayne Syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
The primary objective is to determine the rate of linear growth over a 6-month period in children < 2 years of age and over a 12-month period in children ≥ 2 years of age.
Measured: 6 -12 months
Secondary outcomes (1)
Hearing Test Results tabulated and with the severity/deficits to be correlated with patient age, height velocity, and Pediatric Evaluation of Disabilities Inventory (PEDI)Score
Measured: 6-12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Sep 2009 (estimated)
- Study startSep 2009
- Primary completionFeb 2011
- Study completionFeb 2011
Why it stopped: The company DNage is in receivership and no longer functional
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cockayne SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- DNage B.V.
- Sponsor type
- Industry (pharma, biotech, devices)
- Investigators
- E. G. Neilan, MD, PhD, Principal investigator, Boston Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00985413
- Sponsor's protocol ID
- MP1003-01
- Status last verified
- Jun 2011
- First submitted
- 25 Sep 2009
- Last updated
- 23 Jun 2011
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 23 Jun 2011. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Observational Study to Assess the Natural History Including Growth and Hearing in Patients With Cockayne Syndrome
- ClinicalTrials.gov ID
- NCT00985413
- Acronym / sponsor ID
- MP1003-01
- Conditions
- Cockayne Syndrome
- Keywords
- Cockayne Syndrome, pediatrics, growth, hearing, Ageing
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: The company DNage is in receivership and no longer functional
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- DNage B.V.Industry (pharma, biotech, devices)
- Study start
- Sep 2009
- Primary completion
- Feb 2011 (actual)
- Study completion
- Feb 2011 (actual)
- First posted
- 28 Sep 2009 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is an Observational Study of children under the age of 11 diagnosed with Cockayne Syndrome to assess the natural progression of Cockayne Syndrome disease, with special attention to hearing and physical changes in length or height, weight, head circumference, and arm span during standard treatment.
The primary analytical objective is to determine the rate of linear growth over a 6-month period in children < 2 years of age and over a 12-month period in children ≥ 2 years of age.
Study design
- Observational model
- Cohort
Who may qualify
- Ages
- 1 year to 11 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Pediatric patients up to 10 years of age for females and up to 11 years of age for males who have received a diagnosis of Cockayne Syndrome
Key inclusion criteria (5 listed)
- Pediatric patients with a documented diagnosis of CS, as suggested by clinical features and possible confirmation by genetic consultation and analysis
- Age of participation:
Key exclusion criteria (8 listed)
- Severe contractures or physical deformities that in the opinion of the investigator would prevent accurate measurement of height, length and ulna length
- Patients that have taken growth hormone or growth hormone related medications within 12 months prior to the date of Informed Consent/Assent
- Known history of inborn error of hyperprolinemia (Type I or Type II)
- Clinical features present at the time of initial screening that are associated with the terminal phases of the natural progression of CS suggesting safe travel and completion of the study and its assessments to be unlikely as judged by the Investigator, including any of the following:
- Presence of scoliosis with a Cobb's angle of 30º or greater
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
The primary objective is to determine the rate of linear growth over a 6-month period in children < 2 years of age and over a 12-month period in children ≥ 2 years of age.
Time frame: 6 -12 months
1 secondary outcome
Hearing Test Results tabulated and with the severity/deficits to be correlated with patient age, height velocity, and Pediatric Evaluation of Disabilities Inventory (PEDI)Score
Time frame: 6-12 months
Results and safety
The study was stopped early (reason given: The company DNage is in receivership and no longer functional). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Jun 2011.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
E. G. Neilan, MD, PhD principal investigator
Boston Children's Hospital
4 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cockayne Syndrome, run by DNage B.V. at 4 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 23 Jun 2011. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in United States, France, United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: The company DNage is in receivership and no longer functional). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The primary objective is to determine the rate of linear growth over a 6-month period in children < 2 years of age and over a 12-month period in children ≥ 2 years of age. (time frame: 6 -12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Jun 2011.