Focal Dermal HypoplasiaNCT02463656
Growth Arrest in Focal Dermal Hypoplasia
An observational study of Focal Dermal Hypoplasia, run by University of Colorado, Denver.
Trial summary
Focal dermal hypoplasia (FDH) is a rare genetic disorder of ectodermal dysplasia caused by mutation in the Porcupine Homolog (Drosophila) (PORCN) gene which results in skin, hair, limb and eye abnormalities. Short stature and underweight have been noted in the majority of these patients. Read more about this study
- Who is it for?
- Ages 3 to 18 years
- Conditions the study is for
- Focal Dermal Hypoplasia
- How many people
- 16 participants
- Where
- No sites listed yet
- Study dates
- 15 Jul 2015to 31 May 2018
- 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 3 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Children with focal dermal hypoplasia
Who may be able to join
- patients with focal dermal hypoplasia
- between the ages of 3 and 18 years
- ability to fast overnight, and
- weight at least 9 kg
Who cannot join
- pregnant individuals,
- weight less than 9 kg
About this study
Focal dermal hypoplasia (FDH) is a rare genetic disorder of ectodermal dysplasia caused by mutation in the Porcupine Homolog (Drosophila) (PORCN) gene which results in skin, hair, limb and eye abnormalities. Short stature and underweight have been noted in the majority of these patients. Since the pituitary gland arises from ectodermal tissue, the investigators suspect that pituitary deficiencies may contribute to poor linear growth. This study will examine the nutritional, gastrointestinal and endocrine mechanisms that may account for linear growth stunting and low weight that is observed in FDH. The investigators will utilize standard clinical tools including a bone age xray, glucagon stimulation test to evaluate growth hormone status, baseline laboratory analysis of hormone and nutritional/gastrointestinal markers, food diaries, symptom diaries, and growth charts.
Read the detailed description
Focal dermal hypoplasia (FDH) is a rare genetic disorder of ectodermal dysplasia caused by mutation in the Porcupine Homolog (Drosophila) (PORCN) gene which results in skin, hair, limb and eye abnormalities. Short stature and underweight have been noted in the majority of these patients. Since the pituitary gland arises from ectodermal tissue, the investigators suspect that pituitary deficiencies may contribute to poor linear growth. This study will examine the nutritional, gastrointestinal and endocrine mechanisms that may account for linear growth stunting and low weight that is observed in FDH. The investigators will utilize standard clinical tools including a bone age xray, glucagon stimulation test to evaluate growth hormone status, baseline laboratory analysis of hormone and nutritional/gastrointestinal markers, food diaries, symptom diaries, and growth charts.
- Conditions
- Focal Dermal Hypoplasia
- Medical subject headings
- Focal Dermal Hypoplasia
What is being measured
The primary outcome is the main question the study is designed to answer.
Determination of Growth Hormone Deficiency
Glucagon growth hormone stimulation test
Measured: 1 day
Secondary outcomes (2)
Determination of poor growth
Bone age x-rays will be read independently and compared to the accepted standards and quantified as a standard deviation from chronological age.
Measured: 1 day
Determination of poor weight gain
Evaluation of IGF-1 levels which are frequently low in children who are underweight or poorly nourished.
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Jun 2015 (estimated)
- Study start15 Jul 2015
- Primary completion30 Mar 2016
- Study completion31 May 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Focal Dermal HypoplasiaStudies of the same condition, open and under way.
- More trials run by University of Colorado, DenverThe sponsor's other registered studies.
- 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
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 16 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Colorado, Denver
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Stephanie C Hsu, MD, Principal investigator, University of Colorado, Denver
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02463656
- Sponsor's protocol ID
- 14-2127
- Status last verified
- Jun 2018
- First submitted
- 2 Jun 2015
- Last updated
- 18 Jun 2018
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Jun 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Growth Arrest in Focal Dermal Hypoplasia
- ClinicalTrials.gov ID
- NCT02463656
- Acronym / sponsor ID
- 14-2127
- Conditions
- Focal Dermal Hypoplasia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 16 participants (actual)
- Lead sponsor
- University of Colorado, DenverUniversity, hospital or other
- Study start
- 15 Jul 2015 (actual)
- Primary completion
- 30 Mar 2016 (actual)
- Study completion
- 31 May 2018 (actual)
- First posted
- 4 Jun 2015 (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.
Focal dermal hypoplasia (FDH) is a rare genetic disorder of ectodermal dysplasia caused by mutation in the Porcupine Homolog (Drosophila) (PORCN) gene which results in skin, hair, limb and eye abnormalities. Short stature and underweight have been noted in the majority of these patients. Since the pituitary gland arises from ectodermal tissue, the investigators suspect that pituitary deficiencies may contribute to poor linear growth. This study will examine the nutritional, gastrointestinal and endocrine mechanisms that may account for linear growth stunting and low weight that is observed in FDH. The investigators will utilize standard clinical tools including a bone age xray, glucagon stimulation test to evaluate growth hormone status, baseline laboratory analysis of hormone and nutritional/gastrointestinal markers, food diaries, symptom diaries, and growth charts.
Detailed description
Focal dermal hypoplasia (FDH) is a rare genetic disorder of ectodermal dysplasia caused by mutation in the Porcupine Homolog (Drosophila) (PORCN) gene which results in skin, hair, limb and eye abnormalities. Short stature and underweight have been noted in the majority of these patients. Since the pituitary gland arises from ectodermal tissue, the investigators suspect that pituitary deficiencies may contribute to poor linear growth. This study will examine the nutritional, gastrointestinal and endocrine mechanisms that may account for linear growth stunting and low weight that is observed in FDH. The investigators will utilize standard clinical tools including a bone age xray, glucagon stimulation test to evaluate growth hormone status, baseline laboratory analysis of hormone and nutritional/gastrointestinal markers, food diaries, symptom diaries, and growth charts.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 3 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Children with focal dermal hypoplasia
Key inclusion criteria (4 listed)
- patients with focal dermal hypoplasia
- between the ages of 3 and 18 years
- ability to fast overnight, and
- weight at least 9 kg
Key exclusion criteria (2 listed)
- pregnant individuals,
- weight less than 9 kg
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
Determination of Growth Hormone Deficiency
Time frame: 1 day
Glucagon growth hormone stimulation test
2 secondary outcomes
Determination of poor growth
Time frame: 1 day
Determination of poor weight gain
Time frame: 1 day
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Jun 2018.
Related trials for Focal Dermal Hypoplasia
Active, not recruitingObservational study
Study of Selected X-linked Disorders: Goltz Syndrome
Focal Dermal Hypoplasia (FDH), Goltz Syndrome
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.
Stephanie C Hsu, MD principal investigator
University of Colorado, Denver
Questions about this trial
What is this clinical trial studying?
An observational study of Focal Dermal Hypoplasia, run by University of Colorado, Denver.
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 4 inclusion and 2 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: finished, as of the sponsor's last update on 18 Jun 2018. Status can change between updates, so confirm with the study contact before making plans.
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 is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Determination of Growth Hormone Deficiency (time frame: 1 day). 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 18 Jun 2018.