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Can a drug for one bone disease help another? a Rare-Disorder trial puts it to the test

NCT ID NCT03993821

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jul 30, 2026 · Last updated Jul 31, 2026 · Updated 1 time

Summary

This early-phase trial is testing whether burosumab, a drug already approved for X-linked hypophosphatemia (XLH), can safely raise phosphate levels in a single patient with cutaneous skeletal hypophosphatemia syndrome (CSHS). Both conditions involve abnormally high FGF23 activity leading to low phosphate. The patient will receive burosumab injections over 52 weeks, with the main goal of measuring changes in blood phosphate levels.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
burosumab (Crysvita), an antibody that blocks FGF23 to raise phosphate levels
What this could lead to
If successful, burosumab could offer a treatment option for people with CSHS, a rare condition with no approved therapies.
What could go wrong
This is a very early, single-patient trial, so results may not apply to others. Burosumab is not yet approved for CSHS, and side effects are possible.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Early phase 1

The earliest testing in people: a first look at safety, in a very small group.

Participants

1 person

The number who actually took part.

Started

Jul 2019

Finished

Mar 2026

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: In order to be eligible to participate in this study, an individual must meet all of the following criteria: 1. Patient has confirmed CSHS by physician diagnosis 2. Patient has confirmed FGF23 elevations in the context of a low fasting serum phosphorous \< 2.5 mg/dL 3. Patient able to tolerate burosumab treatment 4. Have a corrected serum calcium level \< 10.8 mg/dL 5. Have an eGFR \>25 mL/min/1.73m2 (using CKD-EPI equation) 6. Must be willing in the opinion of the investigators, to comply with study procedures and schedule 7. Provide written informed consent by the subject or a Legal Authorized Representative (LAR) after the study has been explained and prior to any research related procedures begin 8. Must have a negative pregnancy test at Screening and be willing to have additional pregnancy tests during the study. 9. Must be willing to use a highly effective method of contraception for the duration of the study and for at least 12 weeks after the last dose of the study drug. Highly effective methods of contraception include: combined (estrogen and progestogen containing) hormonal contraception associated with inhibition of ovulation (e.g., oral, intravaginal, transdermal), progestogen-only hormonal contraception associated with inhibition of ovulation (e.g., oral, injectable, implantable), intrauterine device (IUD) or intrauterine hormone-releasing system (IUS), bilateral tubal occlusion, or sexual abstinence (i.e., refraining from heterosexual intercourse during the entire period of risk associated with the study treatments, when this is in line with the preferred and usual lifestyle of the subject) Exclusion Criteria: An individual who meets any of the following criteria will be excluded from participation in this study: 1. Concomitant use of active vitamin D (i.e. calcitriol) and/or exogenous phosphate supplementation during burosumab therapy. Subjects will be allowed over the counter Vitamin D should levels drop below \<20 ng/ml 2. Blood phosphorus level within or above the normal range while not taking phosphate or active Vitamin D. 3. Severe renal impairment or end-stage renal disease, defined as an eGFR of less than 25 ml/min/1.73m2 4. The use or enrollment in studies using other investigational therapies including other monoclonal antibodies 5. Subject or Legally Authorized Representative not willing or not able to give written informed consent 6. In the investigator's opinion, the subject may not be able to meet all the requirements for study participation 7. History of hypersensitivity to burosumab excipients that in the opinion of the investigator, places the subject at an increased risk of adverse effects 8. Subject has a condition that in the opinion of the investigator could present a concern for subject safety or data interpretation.

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Conditions

The condition(s) this trial relates to.

epidermal nevus syndrome Nevus, Sebaceous of Jadassohn

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • Children's National Hospital

    Washington D.C., District of Columbia, 20010, United States