Primary:• Determine the biochemical manifestations of ADH1/2 over timeSecondary:• Understand renal health of participants with ADH1/2 • Determine incidence of nephrocalcinosis and/or nephrolithiasis in ADH1/2 participants• Understand bone health in…
ID
Source
Brief title
Condition
- Bone, calcium, magnesium and phosphorus metabolism disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Retrospective and prospective assessment of mineral homeostasis over time,
including blood calcium, phosphorus, magnesium, intact PTH (iPTH),
1,25-dihydroxyvitamin D and urine calcium, phosphorus, and magnesium handling
Secondary outcome
Retrospective and prospective assessment of renal health over time, including
blood creatinine and estimated glomerular filtration rate (eGFR)
• Retrospective and prospective assessment of renal ultrasound to evaluate for
nephrocalcinosis and nephrolithiasis
• Retrospective and prospective assessment of dual-energy X-ray absorptiometry
(DXA) to evaluate bone mineral density and assessment of bone turnover markers
• SF-36 (participants >=16 years) and SF-10 (participants >= 6 years and < 16
years)
• Retrospective and prospective assessment of ADH1/2 treatment regimens
• ADH1/2 Questionnaires
• Baseline and prospective assessment of electrocardiogram (ECG) and cardiac
symptoms
Background summary
Autosomal dominant hypocalcemia type 1 (ADH1) and autosomal dominant
hypocalcemia type 2 (ADH2) are rare disorders of systemic calcium homeostasis.
The Sponsor is conducting a research study to better understand the natural
history of Autosomal Dominant Hypocalcemia Types 1 and 2 (ADH1/2). This means
they want to better understand how ADH1/2 is diagnosed, the symptoms patients
with ADH1/2 experience, how patients are treated and how ADH1/2 affects
patients* lives. The purpose of this research study is to collect your medical
history and to continue to collect medical information from you for up to 7
years. This study is a disease monitoring study, which means there is no active
treatment or study medication provided to you. If you are currently receiving
calcium and active vitamin D supplements by your medical doctor for ADH1 or
ADH2, you will be allowed to continue those supplements while participating in
this study.
Study objective
Primary:
• Determine the biochemical manifestations of ADH1/2 over time
Secondary:
• Understand renal health of participants with ADH1/2
• Determine incidence of nephrocalcinosis and/or nephrolithiasis in ADH1/2
participants
• Understand bone health in ADH1/2
• Understand impact of ADH1/2 on quality of life
• Understand ADH1/2 treatment regimens
• Determine the clinical manifestations and progression of ADH1/2 over time
• Understand cardiovascular manifestations, including symptoms, clinical
events, or electrocardiogram (ECG) abnormalities referable to abnormalities of
calcium handling
Study design
A global, multi-center, longitudinal, disease monitoring study in participants
with ADH1/2 designed to characterize ADH1/2 disease presentation and
progression through retrospective and prospective data collection. This study
will provide a more comprehensive assessment of the natural history of ADH1/2
than has been performed to date. This is a disease monitoring study, as no
investigational product is being administered, and any standard of care (SoC)
treatment participants may receive will be as directed by their treating
physicians. Demographic, biochemical, disease severity, and progression data
will be collected in all participants. Eligible participants include children
(birth to 17 years) and adults (18 - 90 years) with ADH1/2 as determined by an
activating variant or variant of uncertain significance of CASR in ADH1 or
GNA11 in ADH2.
Study burden and risks
Some procedures performed during the study may carry risks. Should the patient
have any questions regarding procedures or the risks associated with the tests,
the patient's study doctor can provide more information.
Procedure Risk
Blood Draws • Discomfort due to swelling or bruising around the
site where a needle was inserted
• Light-headedness and/or fainting
• Risk of infection at or around the
site where a needle was inserted
ECG • The sticky pads placed on the patient's chest may
cause skin irritation
DXA Scan • Risks involve exposure to the radiation of X-rays
which can be harmful to pregnant and lactating mothers.
• The amount of radiation exposure
during a DXA scan is low and not much higher than the patient's radiation
exposure
that occurs naturally in the
environment. Should the patient have concerns about the amount of radiation
he/she could
receive in this trial, please
speak with the patient's study doctor.
Renal Ultrasound • Most people don't experience any side effects. In
rare instances, the patient may notice some mild tenderness over the
areas that have been examined,
but this should subside within a couple of hours.
Owens Street Suite C-1200 1800
San Francisco CA 94158
NL
Owens Street Suite C-1200 1800
San Francisco CA 94158
NL
Listed location countries
Age
Inclusion criteria
Participants from birth to age 90 years must meet all the following criteria
for inclusion during screening:
1. Have a documented activating variant or variant of uncertain significance of
the CASR gene for ADH1 or documented activating variant or variant of uncertain
significance of the GNA11 gene for ADH2 associated with a clinical syndrome of
hypoparathyroidism prior to enrollment. Note: Acceptable documentation includes
CASR or GNA11 genetic analysis report. If no prior documented CASR or GNA11
gene variant or variant of uncertain significance, potential participants can
undergo CASR and GNA11 gene variant analysis at Screening.
2. Be willing and able to provide informed consent or assent after the nature
of the study has been explained, and prior to any research-related procedures
3. Be willing and able to provide access to prior medical records including
imaging, biochemical, and diagnostic and medical history data, if available
4. Be willing and able to comply with the study visit schedule and study
procedure
Exclusion criteria
Participants are excluded from the study if any of the following criteria
apply:
1. Have serious medical or psychiatric comorbidity that, in the opinion of the
Investigator, would present a concern for
participant safety or compromise the ability to provide consent or assent,
or comply with the study visit schedule and
study procedures
2. Enrollment in an ADH1/2 interventional clinical study at the time of DMS
Screening visit
Design
Recruitment
Medical products/devices used
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL80300.078.22 |